E65K (p.Glu65Lys) variant of MYL2 (P10916)
E65K (p.Glu65Lys) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
E65K (p.Glu65Lys) variant details
- p.Glu65Lys
- rs397516398
- ClinGen CA009936
- ClinVar RCV000626688
- ClinVar RCV001588846
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.83
- MetaLR 0.73
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.14
- MutPred 0.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy 10; Hypertrophic cardi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)